ArticleScientific reports2016
Neurofilaments in blood and CSF for diagnosis and prediction of onset in Creutzfeldt-Jakob disease.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 2 of them syntheses that pooled it.
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Who cites it
55 citing papers in PubMed, 2 syntheses or guidelines pooled it, 110 citations in OpenAlex.
- Prion disease mimicking rapidly progressive Alzheimer disease: case series and systematic review.Journal of neurology · 2026Pooled it
- Association between blood neurofilament light chain levels and vascular cognitive impairment: a systematic review and meta-analysis.Frontiers in neuroscience · 2026Pooled it
- High efavirenz levels but not neurofilament light plasma levels are associated with poor neurocognitive functioning in asymptomatic HIV patients.Journal of neurovirology · 2020Trial
- Fluid and Neuroimaging Biomarkers in Microgliopathy Colony-Stimulating Factor-1 Receptor-Related Disorders.Annals of clinical and translational neurology · 2026Article
- Prion protein (PrP) profiles in blood and CSF: insights into pre-symptomatic and symptomatic prion disease.Brain communications · 2026Article
- Clinical use and reporting of neurofilament quantification in neurological disorders: A global overview.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- PRNP E146G mutation inherited prion disease: distinctive clinical, pathological and fluid biomarker features.Journal of neurology · 2025Article
- Challenges and Revisions in Diagnostic Criteria: Advancing Early Detection of Prion Diseases.International journal of molecular sciences · 2025Review
- Biological Fluid Biomarkers in Human Prion Diseases with a Note on Biosafety.Sub-cellular biochemistry · 2025Review
- Neurofilament Light Chain Levels in Serum and Cerebrospinal Fluid Do Not Correlate with Survival Times in Patients with Prion Disease.Biomolecules · 2024Article
- Neurofilaments as biomarkers in neurological disorders - towards clinical application.Nature reviews. Neurology · 2024Review
- Temporal serum neurofilament light chain concentrations in sheep inoculated with the agent of classical scrapie.PloS one · 2024Article
- Diagnosis in Scrapie: Conventional Methods and New Biomarkers.Pathogens (Basel, Switzerland) · 2023Review
- Prion propagation and cellular dysfunction in prion disease: Disconnecting the dots.PLoS pathogens · 2023Article
- Abnormal prion protein, infectivity and neurofilament light-chain in blood of macaques with experimental variant Creutzfeldt-Jakob disease.The Journal of general virology · 2022Article
- Neurogranin and Neurofilament Light Chain as Preclinical Biomarkers in Scrapie.International journal of molecular sciences · 2022Article
- Role of Biomarkers for the Diagnosis of Prion Diseases: A Narrative Review.Medicina (Kaunas, Lithuania) · 2022Review
- Neurofilaments contribution in clinic: state of the art.Frontiers in aging neuroscience · 2022Review
- NT1-Tau Is Increased in CSF and Plasma of CJD Patients, and Correlates with Disease Progression.Cells · 2021Article
- Sporadic Creutzfeldt-Jakob disease: Real-Time Quaking Induced Conversion (RT-QuIC) assay represents a major diagnostic advance.European journal of histochemistry : EJH · 2021Review
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
While cerebrospinal fluid (CSF) biomarkers for Creutzfeldt-Jakob disease (CJD) are established and partly included in the diagnostic criteria, no blood biomarkers are available. Here, we assessed the utility of serum neurofilament light chain (NF-L) and tau protein in comparison to CSF markers (NF-L and phosphorylated NF heavy chain (pNF-H), tau, S100B, 14-3-3) and prion conversion assay (real-time quaking induced conversion (RT-QuIC)) for sporadic and genetic CJD. Importantly, a Gerstmann-Sträussler-Scheinker mutation carrier in the asymptomatic phase and at disease onset was included as well. Both NF-L and tau were markedly increased in CJD serum, reaching similar or even better performance as in CSF (sensitivity and specificity for serum NF-L 100% and 85.5%, and for serum tau 84.6% and 96.2%, respectively). Serum S100B showed high sensitivity as well (84.2%), but lower specificity (63%). CSF neurofilaments were increased before symptom onset, while prion seeding assay was negative. Just before a clinical diagnosis could be made, all CSF markers and NF-L in the serum were increased and CSF prion conversion assay was positive. The data suggest that neurofilaments are sensitive and specific blood markers for the diagnosis of genetic and sporadic CJD and might represent promising tools to predict disease onset.
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